Search Results - Richard, Gabriele

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  1. 1
    DISEASES OF EPIDERMAL KERATINS AND THEIR LINKER PROTEINS

    DISEASES OF EPIDERMAL KERATINS AND THEIR LINKER PROTEINS by Uitto, Jouni, Richard, Gabriele, McGrath, John A.

    Published 2007
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  2. 2
    GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity

    GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activ... by Chefetz, Ilana, Kohno, Kimitoshi, Izumi, Hiroto, Uitto, Jouni, Richard, Gabriele, Sprecher, Eli

    Published 2008
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  3. 3
    The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome

    The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome by Mese, Gulistan, Sellitto, Caterina, Li, Leping, Wang, Hong-Zhan, Valiunas, Virginijus, Richard, Gabriele, Brink, Peter R., White, Thomas W.

    Published 2011
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  4. 4
    High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

    High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders by Stosser, Mary Beth, Lindy, Amanda S, Butler, Elizabeth, Retterer, Kyle, Piccirillo-Stosser, Caitlin M, Richard, Gabriele, McKnight, Dianalee A

    Published 2018
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  5. 5
    Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness

    Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness by Abrams, Charles K., Freidin, Mona M., Verselis, Vytas K., Bargiello, Thaddeus A., Kelsell, David P., Richard, Gabriele, Bennett, Michael V. L., Bukauskas, Feliksas F.

    Published 2006
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  6. 6
    A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis

    A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis by Topaz, Orit, Indelman, Margarita, Chefetz, Ilana, Geiger, Dan, Metzker, Aryeh, Altschuler, Yoram, Choder, Mordechai, Bercovich, Dani, Uitto, Jouni, Bergman, Reuven, Richard, Gabriele, Sprecher, Eli

    Published 2006
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  7. 7
    Large Contiguous Gene Deletions in Sjögren-Larsson Syndrome

    Large Contiguous Gene Deletions in Sjögren-Larsson Syndrome by Engelstad, Holly, Carney, Gael, S'Aulis, Dana, Rise, Janae, Sanger, Warren G., Rudd, M. Katharine, Richard, Gabriele, Carr, Christopher W., Abdul-Rahman, Omar A., Rizzo, William B.

    Published 2011
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  8. 8
    Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

    Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome by Richard, Gabriele, Rouan, Fatima, Willoughby, Colin E., Brown, Nkecha, Chung, Pil, Ryynänen, Markku, Jabs, Ethylin Wang, Bale, Sherri J., DiGiovanna, John J., Uitto, Jouni, Russell, Laura

    Published 2002
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  9. 9
    Normophosphatemic Familial Tumoral Calcinosis Is Caused by Deleterious Mutations in SAMD9, Encoding a TNF-α Responsive Protein

    Normophosphatemic Familial Tumoral Calcinosis Is Caused by Deleterious Mutations in SAMD9, Encoding a TNF-α Responsive Protein by Chefetz, Ilana, Ben Amitai, Danny, Browning, Sarah, Skorecki, Karl, Adir, Noam, Thomas, Mark G., Kogleck, Larissa, Topaz, Orit, Indelman, Margarita, Uitto, Jouni, Richard, Gabriele, Bradman, Neil, Sprecher, Eli

    Published 2007
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  10. 10
    Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome

    Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome by Zhang, April, Duchatelet, Sabine, Lakdawala, Nikita, Tower, Richard L., Diamond, Carrie, Marathe, Kalyani, Hill, India, Richard, Gabriele, Diab, Yaser, Kirkorian, Anna Yasmine, Watanabe, Flora, Siegel, Dawn H., Hovnanian, Alain

    Published 2020
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  11. 11
    Cochleosaccular Dysplasia Associated With a Connexin 26 Mutation in Keratitis–Ichthyosis–Deafness Syndrome

    Cochleosaccular Dysplasia Associated With a Connexin 26 Mutation in Keratitis–Ichthyosis–Deafness Syndrome by Griffith, Andrew J., Yang, Yandan, Pryor, Shannon P., Park, Hong-Joon, Jabs, Ethylin Wang, Nadol, Joseph B., Russell, Laura J., Wasserman, Daniel I., Richard, Gabriele, Adams, Joe C., Merchant, Saumil N.

    Published 2006
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  12. 12
    Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14

    Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14 by Lugassy, Jennie, Itin, Peter, Ishida-Yamamoto, Akemi, Holland, Kristen, Huson, Susan, Geiger, Dan, Hennies, Hans Christian, Indelman, Margarita, Bercovich, Dani, Uitto, Jouni, Bergman, Reuven, McGrath, John A., Richard, Gabriele, Sprecher, Eli

    Published 2006
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  13. 13
    Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

    Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14 by Fuchs-Telem, Dana, Sarig, Ofer, van Steensel, Maurice A.M., Isakov, Ofer, Israeli, Shirli, Nousbeck, Janna, Richard, Katharina, Winnepenninckx, Veronique, Vernooij, Marigje, Shomron, Noam, Uitto, Jouni, Fleckman, Philip, Richard, Gabriele, Sprecher, Eli

    Published 2012
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  14. 14
    Mutations and Polymorphisms of the Skeletal Muscle α-Actin Gene (ACTA1)

    Mutations and Polymorphisms of the Skeletal Muscle α-Actin Gene (ACTA1) by Laing, Nigel G., Dye, Danielle E., Wallgren-Pettersson, Carina, Richard, Gabriele, Monnier, Nicole, Lillis, Suzanne, Winder, Thomas L., Lochmüller, Hanns, Graziano, Claudio, Mitrani-Rosenbaum, Stella, Tuomey, Darren, Sparrow, John C., Beggs, Alan H., Nowak, Kristen J.

    Published 2009
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  15. 15
    Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience

    Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience by Al‐Dewik, Nader, Mohd, Howaida, Al‐Mureikhi, Mariam, Ali, Rehab, Al‐Mesaifri, Fatma, Mahmoud, Laila, Shahbeck, Noora, El‐Akouri, Karen, Almulla, Mariam, Al Sulaiman, Reem, Musa, Sara, Al‐Marri, Ajayeb Al‐Nabet, Richard, Gabriele, Juusola, Jane, Solomon, Benjamin D., Alkuraya, Fowzan S., Ben‐Omran, Tawfeg

    Published 2019
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  16. 16
    De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

    De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay by Yang, Hui, Douglas, Ganka, Monaghan, Kristin G., Retterer, Kyle, Cho, Megan T., Escobar, Luis F., Tucker, Megan E., Stoler, Joan, Rodan, Lance H., Stein, Diane, Marks, Warren, Enns, Gregory M., Platt, Julia, Cox, Rachel, Wheeler, Patricia G., Crain, Carrie, Calhoun, Amy, Tryon, Rebecca, Richard, Gabriele, Vitazka, Patrik, Chung, Wendy K.

    Published 2015
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  17. 17
    More than keratitis, ichthyosis, and deafness: multisystem effects of lethal GJB2 mutations

    More than keratitis, ichthyosis, and deafness: multisystem effects of lethal GJB2 mutations by Lilly, Evelyn, Bunick, Christopher G., Maley, Alexander M., Zhang, Shali, Spraker, Mary K, Theos, Amy J, Vivar, Karina L, Seminario-Vidal, Lucia, Bennett, Adam E, Sidbury, Robert, Ogawa, Yasushi, Akiyama, Masashi, Binder, Barbara, Hadj-Rabia, Smail, Morotti, Raffaella A., Glusac, Earl J., Choate, Keith A., Richard, Gabriele, Milstone, Leonard M

    Published 2018
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  18. 18
    Expanding the phenotypic spectrum of GABRG2 variants: A recurrent GABRG2 missense variant associated with a severe phenotype

    Expanding the phenotypic spectrum of GABRG2 variants: A recurrent GABRG2 missense variant associated with a severe phenotype by Zou, Fanggeng, McWalter, Kirsty, Schmidt, Lindsay, Decker, Amy, Picker, Jonathan D., Lincoln, Sharyn, Sweetser, David A., Briere, Lauren C., Chellamani, Harini, Marsh, Eric, Medne, Livija, Wang, Raymond Y, Leydiker, Karen, Mower, Andrew, Visser, Gepke, Cuppen, Inge, van Gassen, Koen L, van der Smagt, Jasper, Yousaf, Adeel, Tennison, Michael, Shanmugham, Anita, Butler, Elizabeth, Richard, Gabriele, McKnight, Dianalee

    Published 2017
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  19. 19
    Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

    Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Exp... by Kelly, Melissa A, Caleshu, Colleen, Morales, Ana, Buchan, Jillian, Wolf, Zena, Harrison, Steven M, Cook, Stuart, Dillon, Mitchell W, Garcia, John, Haverfield, Eden, Jongbloed, Jan D H, Macaya, Daniela, Manrai, Arjun, Orland, Kate, Richard, Gabriele, Spoonamore, Katherine, Thomas, Matthew, Thomson, Kate, Vincent, Lisa M, Walsh, Roddy, Watkins, Hugh, Whiffin, Nicola, Ingles, Jodie, van Tintelen, J Peter, Semsarian, Christopher, Ware, James S, Hershberger, Ray, Funke, Birgit

    Published 2018
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  20. 20
    Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel

    Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Ca... by Morales, Ana, Ing, Alexander, Antolik, Christian, Austin-Tse, Christina, Baudhuin, Linnea M., Bronicki, Lucas, Cirino, Allison, Hawley, Megan H., Fietz, Michael, Garcia, John, Ho, Carolyn, Ingles, Jodie, Jarinova, Olga, Johnston, Tami, Kelly, Melissa A., Kurtz, C. Lisa, Lebo, Matt, Macaya, Daniela, Mahanta, Lisa, Maleszewski, Joseph, Manrai, Arjun K., Murray, Mitzi, Richard, Gabriele, Semsarian, Chris, Thomson, Kate L., Winder, Tom, Ware, James S., Hershberger, Ray E., Funke, Birgit H., Vatta, Matteo

    Published 2021
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